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dbVar

Database of genomic structural variation

nsv442223

Organism: Homo sapiens

Study:nstd22 (McCarroll et al. 2008)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI35 (hg17)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:159,708

Publication(s):McCarroll et al. 2008

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: 719 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):25,112,297-25,272,004

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv442223	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	25,112,297	25,272,004
nsv442223	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003315936.1	Chr11\|NW_0 03315936.1	1	107,331
nsv442223	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	25,133,843	25,293,550
nsv442223	Remapped	Pass	GRCh37.p13	PATCHES	Second Pass	NW_003315936.1	Chr11\|NW_0 03315936.1	1	107,331
nsv442223	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000011.8	Chr11	25,090,419	25,250,126

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv1659261	copy number loss	NA19098	SNP array	Probe signal intensity	1	174
nssv1659262	copy number loss	NA19099	SNP array	Probe signal intensity	1	181
nssv1659263	copy number loss	NA19100	SNP array	Probe signal intensity	1	188

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1659261	Remapped	Pass	NW_003315936.1:g.( ?_1)_(107331_?)del	GRCh38.p12	Second Pass	NW_003315936.1	Chr11\|NW_0 03315936.1	1	107,331
nssv1659262	Remapped	Pass	NW_003315936.1:g.( ?_1)_(107331_?)del	GRCh38.p12	Second Pass	NW_003315936.1	Chr11\|NW_0 03315936.1	1	107,331
nssv1659263	Remapped	Pass	NW_003315936.1:g.( ?_1)_(107331_?)del	GRCh38.p12	Second Pass	NW_003315936.1	Chr11\|NW_0 03315936.1	1	107,331
nssv1659261	Remapped	Perfect	NC_000011.10:g.(?_ 25112297)_(2527200 4_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	25,112,297	25,272,004
nssv1659262	Remapped	Perfect	NC_000011.10:g.(?_ 25112297)_(2527200 4_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	25,112,297	25,272,004
nssv1659263	Remapped	Perfect	NC_000011.10:g.(?_ 25112297)_(2527200 4_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	25,112,297	25,272,004
nssv1659261	Remapped	Pass	NW_003315936.1:g.( ?_1)_(107331_?)del	GRCh37.p13	Second Pass	NW_003315936.1	Chr11\|NW_0 03315936.1	1	107,331
nssv1659262	Remapped	Pass	NW_003315936.1:g.( ?_1)_(107331_?)del	GRCh37.p13	Second Pass	NW_003315936.1	Chr11\|NW_0 03315936.1	1	107,331
nssv1659263	Remapped	Pass	NW_003315936.1:g.( ?_1)_(107331_?)del	GRCh37.p13	Second Pass	NW_003315936.1	Chr11\|NW_0 03315936.1	1	107,331
nssv1659261	Remapped	Perfect	NC_000011.9:g.(?_2 5133843)_(25293550 _?)del	GRCh37.p13	First Pass	NC_000011.9	Chr11	25,133,843	25,293,550
nssv1659262	Remapped	Perfect	NC_000011.9:g.(?_2 5133843)_(25293550 _?)del	GRCh37.p13	First Pass	NC_000011.9	Chr11	25,133,843	25,293,550
nssv1659263	Remapped	Perfect	NC_000011.9:g.(?_2 5133843)_(25293550 _?)del	GRCh37.p13	First Pass	NC_000011.9	Chr11	25,133,843	25,293,550
nssv1659261	Submitted genomic		NC_000011.8:g.(?_2 5090419)_(25250126 _?)del	NCBI35 (hg17)		NC_000011.8	Chr11	25,090,419	25,250,126
nssv1659262	Submitted genomic		NC_000011.8:g.(?_2 5090419)_(25250126 _?)del	NCBI35 (hg17)		NC_000011.8	Chr11	25,090,419	25,250,126
nssv1659263	Submitted genomic		NC_000011.8:g.(?_2 5090419)_(25250126 _?)del	NCBI35 (hg17)		NC_000011.8	Chr11	25,090,419	25,250,126

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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