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dbVar

Database of genomic structural variation

nsv2787342

Organism: Homo sapiens

Study:nstd132 (Walker et al. 2017)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:45,794

Publication(s):Walker et al. 2017

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: 289 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):32,265,770-32,311,563

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv2787342	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	32,265,770	32,311,563
nsv2787342	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_4	Second Pass	NT_167246.2	Chr6\|NT_16 7246.2	3,570,781	3,616,560
nsv2787342	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	32,233,547	32,279,340
nsv2787342	Remapped	Good	GRCh37.p13	ALT_REF_LOCI_4	Second Pass	NT_167246.1	Chr6\|NT_16 7246.1	3,576,401	3,622,180
nsv2787342	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	32,341,525	32,387,318

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv13671164	copy number loss	CGPQ-1267	SNP array	Genotyping	13
nssv13671165	copy number loss	CGPQ-1657	SNP array	Genotyping	55

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv13671164	Remapped	Good	NT_167246.2:g.(?_3 570781)_(3616560_? )del	GRCh38.p12	Second Pass	NT_167246.2	Chr6\|NT_16 7246.2	3,570,781	3,616,560
nssv13671165	Remapped	Good	NT_167246.2:g.(?_3 570781)_(3616560_? )del	GRCh38.p12	Second Pass	NT_167246.2	Chr6\|NT_16 7246.2	3,570,781	3,616,560
nssv13671164	Remapped	Perfect	NC_000006.12:g.(?_ 32265770)_(3231156 3_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	32,265,770	32,311,563
nssv13671165	Remapped	Perfect	NC_000006.12:g.(?_ 32265770)_(3231156 3_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	32,265,770	32,311,563
nssv13671164	Remapped	Good	NT_167246.1:g.(?_3 576401)_(3622180_? )delNT_167246.1:g. (?_3576401)_(36221 80_?)del	GRCh37.p13	Second Pass	NT_167246.1	Chr6\|NT_16 7246.1	3,576,401	3,622,180
nssv13671165	Remapped	Good	NT_167246.1:g.(?_3 576401)_(3622180_? )delNT_167246.1:g. (?_3576401)_(36221 80_?)del	GRCh37.p13	Second Pass	NT_167246.1	Chr6\|NT_16 7246.1	3,576,401	3,622,180
nssv13671164	Remapped	Perfect	NC_000006.11:g.(?_ 32233547)_(3227934 0_?)del	GRCh37.p13	First Pass	NC_000006.11	Chr6	32,233,547	32,279,340
nssv13671165	Remapped	Perfect	NC_000006.11:g.(?_ 32233547)_(3227934 0_?)del	GRCh37.p13	First Pass	NC_000006.11	Chr6	32,233,547	32,279,340
nssv13671164	Submitted genomic		NC_000006.10:g.(?_ 32341525)_(3238731 8_?)del	NCBI36 (hg18)		NC_000006.10	Chr6	32,341,525	32,387,318
nssv13671165	Submitted genomic		NC_000006.10:g.(?_ 32341525)_(3238731 8_?)del	NCBI36 (hg18)		NC_000006.10	Chr6	32,341,525	32,387,318

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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