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dbVar

Database of genomic structural variation

nsv470754

Organism: Homo sapiens

Study:nstd30 (Jakobsson et al. 2008)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:192,877

Publication(s):Jakobsson et al. 2008

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: 1208 SVs from 85 studies. See in: genome view

Remapped(Score: Perfect):189,381,570-189,574,446

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv470754	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	189,381,570	189,574,446
nsv470754	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	189,350,700	189,543,576
nsv470754	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	187,617,323	187,810,199

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Zygosity	Other Calls in this Sample and Study
nssv544367	copy number loss	HGDP01221	SNP array	SNP genotyping analysis	1	Heterozygous	nssv545659, nssv546386
nssv544369	copy number loss	HGDP01305	SNP array	SNP genotyping analysis	1	Heterozygous	7
nssv544370	copy number loss	HGDP01186	SNP array	SNP genotyping analysis	1	Heterozygous	nssv547158, nssv546552, nssv546751
nssv547799	copy number loss	HGDP00716	SNP array	SNP genotyping analysis	1	Heterozygous	9
nssv544368	copy number loss	HGDP01323	SNP array	SNP genotyping analysis	1	Heterozygous	12

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv544367	Remapped	Perfect	NC_000001.11:g.(?_ 189381570)_(189574 446_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,381,570	189,574,446
nssv544369	Remapped	Perfect	NC_000001.11:g.(?_ 189381570)_(189574 446_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,381,570	189,574,446
nssv544370	Remapped	Perfect	NC_000001.11:g.(?_ 189381570)_(189574 446_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,381,570	189,574,446
nssv547799	Remapped	Perfect	NC_000001.11:g.(?_ 189381570)_(189574 446_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,381,570	189,574,446
nssv544368	Remapped	Perfect	NC_000001.11:g.(?_ 189429508)_(189574 446_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,429,508	189,574,446
nssv544367	Remapped	Perfect	NC_000001.10:g.(?_ 189350700)_(189543 576_?)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	189,350,700	189,543,576
nssv544369	Remapped	Perfect	NC_000001.10:g.(?_ 189350700)_(189543 576_?)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	189,350,700	189,543,576
nssv544370	Remapped	Perfect	NC_000001.10:g.(?_ 189350700)_(189543 576_?)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	189,350,700	189,543,576
nssv547799	Remapped	Perfect	NC_000001.10:g.(?_ 189350700)_(189543 576_?)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	189,350,700	189,543,576
nssv544368	Remapped	Perfect	NC_000001.10:g.(?_ 189398638)_(189543 576_?)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	189,398,638	189,543,576
nssv544367	Submitted genomic		NC_000001.9:g.(?_1 87617323)_(1878101 99_?)del	NCBI36 (hg18)		NC_000001.9	Chr1	187,617,323	187,810,199
nssv544369	Submitted genomic		NC_000001.9:g.(?_1 87617323)_(1878101 99_?)del	NCBI36 (hg18)		NC_000001.9	Chr1	187,617,323	187,810,199
nssv544370	Submitted genomic		NC_000001.9:g.(?_1 87617323)_(1878101 99_?)del	NCBI36 (hg18)		NC_000001.9	Chr1	187,617,323	187,810,199
nssv547799	Submitted genomic		NC_000001.9:g.(?_1 87617323)_(1878101 99_?)del	NCBI36 (hg18)		NC_000001.9	Chr1	187,617,323	187,810,199
nssv544368	Submitted genomic		NC_000001.9:g.(?_1 87665261)_(1878101 99_?)del	NCBI36 (hg18)		NC_000001.9	Chr1	187,665,261	187,810,199

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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