Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv3871139

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:52

Description:
See descriptions for individual calls in download files
Publication(s):Klampfl et al. 2013, Nangalia et al. 2013

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 95 SVs from 21 studies. See in: genome view

Submitted genomic12,943,751-12,943,802

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv3871139	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000019.10	Chr19	12,943,751	12,943,802
nsv3871139	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000019.9	Chr19	13,054,565	13,054,616

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15161057	deletion	Multiple	Multiple	Essential thrombocythemia; See individual phenotypes in OMIM allelic variants; THROMBOCYTHEMIA 1; THCYT1	Pathogenic	ClinVar	RCV000083257.5, VCV000097006.2
nssv15161303	deletion	Multiple	Multiple	MYELOFIBROSIS; Myelofibrosis; Primary Myelofibrosis; Primary myelofibrosis	Pathogenic	ClinVar	RCV000083256.5, VCV000097006.2
nssv18329416	deletion	Multiple	Multiple	Essential thrombocythemia; MYELOFIBROSIS; Myelofibrosis; Primary Myelofibrosis; Primary myelofibrosis; See individual phenotypes in OMIM allelic variants; THROMBOCYTHEMIA 1; THCYT1	Pathogenic	ClinVar	RCV002498437.1, VCV000097006.2

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv15161057	Submitted genomic	NC_000019.10:g.129 43751_12943802del	GRCh38 (hg38)	NC_000019.10	Chr19	12,943,751	12,943,802
nssv15161303	Submitted genomic	NC_000019.10:g.129 43751_12943802del	GRCh38 (hg38)	NC_000019.10	Chr19	12,943,751	12,943,802
nssv18329416	Submitted genomic	NC_000019.10:g.129 43751_12943802del	GRCh38 (hg38)	NC_000019.10	Chr19	12,943,751	12,943,802
nssv15161057	Submitted genomic	NC_000019.9:g.1305 4565_13054616del	GRCh37 (hg19)	NC_000019.9	Chr19	13,054,565	13,054,616
nssv15161303	Submitted genomic	NC_000019.9:g.1305 4565_13054616del	GRCh37 (hg19)	NC_000019.9	Chr19	13,054,565	13,054,616
nssv18329416	Submitted genomic	NC_000019.9:g.1305 4565_13054616del	GRCh37 (hg19)	NC_000019.9	Chr19	13,054,565	13,054,616

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15161057	GRCh37: NC_000019.9:g.13054565_13054616del, GRCh38: NC_000019.10:g.12943751_12943802del	deletion	somatic	Essential thrombocythemia; See individual phenotypes in OMIM allelic variants; THROMBOCYTHEMIA 1; THCYT1	Pathogenic	ClinVar	RCV000083257.5, VCV000097006.2
nssv15161303	GRCh37: NC_000019.9:g.13054565_13054616del, GRCh38: NC_000019.10:g.12943751_12943802del	deletion	somatic	MYELOFIBROSIS; Myelofibrosis; Primary Myelofibrosis; Primary myelofibrosis	Pathogenic	ClinVar	RCV000083256.5, VCV000097006.2
nssv18329416	GRCh37: NC_000019.9:g.13054565_13054616del, GRCh38: NC_000019.10:g.12943751_12943802del	deletion	unknown	Essential thrombocythemia; MYELOFIBROSIS; Myelofibrosis; Primary Myelofibrosis; Primary myelofibrosis; See individual phenotypes in OMIM allelic variants; THROMBOCYTHEMIA 1; THCYT1	Pathogenic	ClinVar	RCV002498437.1, VCV000097006.2

No genotype data were submitted for this variant

You are here: NCBI