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dbVar

Database of genomic structural variation

nsv6290081

Organism: Homo sapiens

Study:nstd218 (Wijesiriwardhana et al. 2021)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:23,983

Publication(s):Wijesiriwardhana et al. 2021

Links to Other Resources

Overlapping Genes

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: 1435 SVs from 90 studies. See in: genome view

Remapped(Score: Perfect):241,981,907-242,005,889

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6290081	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	241,981,907	242,005,889
nsv6290081	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187523.1	Chr2\|NT_18 7523.1	20,602	44,584
nsv6290081	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187647.1	Chr2\|NT_18 7647.1	20,602	44,584
nsv6290081	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	242,924,058	242,948,040

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17955696	copy number loss	Oligo aCGH	Probe signal intensity

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17955696	Remapped	Perfect	NT_187523.1:g.(?_2 0602)_(44584_?)del	GRCh38.p12	Second Pass	NT_187523.1	Chr2\|NT_18 7523.1	20,602	44,584
nssv17955696	Remapped	Perfect	NT_187647.1:g.(?_2 0602)_(44584_?)del	GRCh38.p12	Second Pass	NT_187647.1	Chr2\|NT_18 7647.1	20,602	44,584
nssv17955696	Remapped	Perfect	NC_000002.12:g.(?_ 241981907)_(242005 889_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	241,981,907	242,005,889
nssv17955696	Submitted genomic		NC_000002.11:g.(?_ 242924058)_(242948 040_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	242,924,058	242,948,040

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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