A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001335



Internal ID19090552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161543969..161668711hg38UCSC Ensembl
Innerchr1:161513759..161638501hg19UCSC Ensembl
Innerchr1:159780383..159905125hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38124743
hg19124743
hg18124743
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv449n100
Supporting Variantsnssv3496289, nssv3488607, nssv3490843, nssv3499870, nssv3704780, nssv3500840, nssv3484581, nssv3485957, nssv3499070, nssv3500289, nssv3500784, nssv3495825, nssv3494205, nssv3486544, nssv3491890, nssv3498290, nssv3497541, nssv3490192, nssv3704779, nssv3704778, nssv3485355, nssv3486257, nssv3485352, nssv3488750, nssv3495817, nssv3489289, nssv3484730, nssv3495137, nssv3495575, nssv3487023, nssv3483380, nssv3497632, nssv3489774, nssv3704777, nssv3704781, nssv3498510, nssv3489305
Samples
Known GenesFCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001335
Frequency
Sample Size11257
Observed Gain25
Observed Loss12
Observed Complex0
Frequencyn/a


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