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dbVar

Database of genomic structural variation

nsv4626044

Organism: Homo sapiens

Study:nstd183 (DECIPHER Consensus CNVs)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:234,327

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: 1299 SVs from 96 studies. See in: genome view

Remapped(Score: Perfect):16,495,686-16,730,012

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4626044	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	16,495,686	16,730,012
nsv4626044	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187607.1	Chr16\|NT_1 87607.1	2,156,746	2,390,949
nsv4626044	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	16,589,543	16,823,869

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16147451	deletion	Curated	Curated
nssv16151819	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16147451	Remapped	Good	NT_187607.1:g.(?_2 156746)_(2390949_? )del	GRCh38.p12	Second Pass	NT_187607.1	Chr16\|NT_1 87607.1	2,156,746	2,390,949
nssv16151819	Remapped	Good	NT_187607.1:g.(?_2 156746)_(2390949_? )dup	GRCh38.p12	Second Pass	NT_187607.1	Chr16\|NT_1 87607.1	2,156,746	2,390,949
nssv16147451	Remapped	Perfect	NC_000016.10:g.(?_ 16495686)_(1673001 2_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	16,495,686	16,730,012
nssv16151819	Remapped	Perfect	NC_000016.10:g.(?_ 16495686)_(1673001 2_?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	16,495,686	16,730,012
nssv16147451	Submitted genomic		NC_000016.9:g.(?_1 6589543)_(16823869 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	16,589,543	16,823,869
nssv16151819	Submitted genomic		NC_000016.9:g.(?_1 6589543)_(16823869 _?)dup	GRCh37 (hg19)		NC_000016.9	Chr16	16,589,543	16,823,869

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16147451	0.002	9	5919
nssv16151819	0.009	54	5919

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