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dbVar

Database of genomic structural variation

nsv4681175

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:162

Description:
See descriptions for individual calls in download files
Publication(s):ACMG Board of Directors et al. 2014, Daly et al. 2014, Eng et al. 2001, Green et al. 2013, Kalia et al. 2016, No authors et al. 2020, No authors et al. 2021, No authors et al. 2021, No authors et al. 2021, Saslow et al. 2007, Schaefer et al. 2013, Syngal et al. 2015

Links to Other Resources

Source: NCBI

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

Genome View

Select assembly:

Overlapping variant regions from other studies: 83 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):87,952,108-87,952,269

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681175	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	87,952,108	87,952,269
nsv4681175	Remapped	Perfect	GRCh38.p12	PATCHES	Second Pass	NW_013171807.1	Chr10\|NW_0 13171807.1	167,897	168,058
nsv4681175	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	89,711,865	89,712,026

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214545	deletion	Multiple	Multiple	Hamartoma Syndrome, Multiple; PTEN Hamartoma Tumor Syndrome; PTEN hamartoma tumor syndrome	Pathogenic	ClinVar	RCV001033541.6, VCV000833082.6
nssv17172287	duplication	Multiple	Multiple	Hamartoma Syndrome, Multiple; PTEN Hamartoma Tumor Syndrome; PTEN hamartoma tumor syndrome	Likely pathogenic	ClinVar	RCV001379252.5, VCV001067874.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16214545	Remapped	Perfect	NW_013171807.1:g.( ?_167897)_(168058_ ?)del	GRCh38.p12	Second Pass	NW_013171807.1	Chr10\|NW_0 13171807.1	167,897	168,058
nssv17172287	Remapped	Perfect	NW_013171807.1:g.( ?_167897)_(168058_ ?)dup	GRCh38.p12	Second Pass	NW_013171807.1	Chr10\|NW_0 13171807.1	167,897	168,058
nssv16214545	Remapped	Perfect	NC_000010.11:g.(?_ 87952108)_(8795226 9_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	87,952,108	87,952,269
nssv17172287	Remapped	Perfect	NC_000010.11:g.(?_ 87952108)_(8795226 9_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	87,952,108	87,952,269
nssv16214545	Submitted genomic		NC_000010.10:g.(?_ 89711865)_(8971202 6_?)del	GRCh37 (hg19)		NC_000010.10	Chr10	89,711,865	89,712,026
nssv17172287	Submitted genomic		NC_000010.10:g.(?_ 89711865)_(8971202 6_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	89,711,865	89,712,026

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
nssv16214545	GRCh37: NC_000010.10:g.(?_89711865)_(89712026_?)del	deletion	germline	Hamartoma Syndrome, Multiple; PTEN Hamartoma Tumor Syndrome; PTEN hamartoma tumor syndrome	Pathogenic	ClinVar	RCV001033541.6, VCV000833082.6
nssv17172287	GRCh37: NC_000010.10:g.(?_89711865)_(89712026_?)dup	duplication	germline	Hamartoma Syndrome, Multiple; PTEN Hamartoma Tumor Syndrome; PTEN hamartoma tumor syndrome	Likely pathogenic	ClinVar	RCV001379252.5, VCV001067874.5

No genotype data were submitted for this variant

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