A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608971



Internal ID16396380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148377235..148379174hg38UCSC Ensembl
Innerchr7:148074327..148076266hg19UCSC Ensembl
Innerchr7:147705260..147707199hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg381940
hg191940
hg181940
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11710n54
Supporting Variantsnssv1099458, nssv1099452, nssv1099456, nssv1099461, nssv1099459, nssv1099460, nssv1099455, nssv1099463, nssv1099453, nssv1099457, nssv1099454, nssv1099465, nssv1099464, nssv1099462, nssv1099451
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608971
Frequency
Sample Size17421
Observed Gain1
Observed Loss14
Observed Complex0
Frequencyn/a


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