A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003197



Internal ID18745728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16888315..16927031hg38UCSC Ensembl
Innerchr1:17214810..17253526hg19UCSC Ensembl
Innerchr1:17087397..17126113hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3838717
hg1938717
hg1838717
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv117n100
Supporting Variantsnssv3700263, nssv3477204, nssv3478911, nssv3700261, nssv3700262
Samples
Known GenesCROCC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003197
Frequency
Sample Size29084
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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