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dbVar

Database of genomic structural variation

nsv6630500

Organism: Homo sapiens

Study:nstd224 (Zarrei et al. 2023)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:43,220

Publication(s):Zarrei et al. 2023

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: 462 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):176,144,576-176,187,795

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6630500	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	176,144,576	176,187,795
nsv6630500	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	175,571,579	175,614,798

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18284039	duplication	OSC2437	SNP array	Probe signal intensity	nssv18284038, nssv18284040, nssv18284041
nssv18285072	duplication	OSC2502	SNP array	Probe signal intensity	nssv18285073, nssv18285071, nssv18285070
nssv18287664	duplication	OSC3054	SNP array	Probe signal intensity	7
nssv18296260	duplication	OSC4564	SNP array	Probe signal intensity	nssv18295362, nssv18295911, nssv18296259
nssv18299961	duplication	OSC5267	SNP array	Probe signal intensity	nssv18299960, nssv18299962, nssv18299963
nssv18301678	deletion	OSC5656	SNP array	Probe signal intensity	nssv18301677, nssv18301676, nssv18302036
nssv18301963	duplication	OSC5607	SNP array	Probe signal intensity	nssv18301962, nssv18300683, nssv18300682

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18284039	Remapped	Perfect	NC_000005.10:g.(?_ 176144576)_(176187 795_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	176,144,576	176,187,795
nssv18285072	Remapped	Perfect	NC_000005.10:g.(?_ 176144576)_(176187 795_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	176,144,576	176,187,795
nssv18287664	Remapped	Perfect	NC_000005.10:g.(?_ 176144576)_(176187 795_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	176,144,576	176,187,795
nssv18296260	Remapped	Perfect	NC_000005.10:g.(?_ 176144576)_(176187 795_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	176,144,576	176,187,795
nssv18299961	Remapped	Perfect	NC_000005.10:g.(?_ 176144576)_(176187 795_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	176,144,576	176,187,795
nssv18301678	Remapped	Perfect	NC_000005.10:g.(?_ 176144576)_(176187 795_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	176,144,576	176,187,795
nssv18301963	Remapped	Perfect	NC_000005.10:g.(?_ 176144576)_(176187 795_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	176,144,576	176,187,795
nssv18284039	Submitted genomic		NC_000005.9:g.(?_1 75571579)_(1756147 98_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	175,571,579	175,614,798
nssv18285072	Submitted genomic		NC_000005.9:g.(?_1 75571579)_(1756147 98_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	175,571,579	175,614,798
nssv18287664	Submitted genomic		NC_000005.9:g.(?_1 75571579)_(1756147 98_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	175,571,579	175,614,798
nssv18296260	Submitted genomic		NC_000005.9:g.(?_1 75571579)_(1756147 98_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	175,571,579	175,614,798
nssv18299961	Submitted genomic		NC_000005.9:g.(?_1 75571579)_(1756147 98_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	175,571,579	175,614,798
nssv18301678	Submitted genomic		NC_000005.9:g.(?_1 75571579)_(1756147 98_?)del	GRCh37 (hg19)		NC_000005.9	Chr5	175,571,579	175,614,798
nssv18301963	Submitted genomic		NC_000005.9:g.(?_1 75571579)_(1756147 98_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	175,571,579	175,614,798

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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