A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012691



Internal ID19101908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:113853968..113895642hg38UCSC Ensembl
Innerchr3:113572815..113614489hg19UCSC Ensembl
Innerchr3:115055505..115097179hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3841675
hg1941675
hg1841675
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4841n100
Supporting Variantsnssv3735265, nssv3604455, nssv3604456, nssv3604451, nssv3604458, nssv3604454, nssv3604452, nssv3604460, nssv3604453, nssv3604459, nssv3735264, nssv3604457, nssv3604461
Samples
Known GenesGRAMD1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012691
Frequency
Sample Size11257
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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