A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170317



Internal ID21314378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231583884..231669173hg38UCSC Ensembl
Outerchr2:231576464..231673216hg38UCSC Ensembl
Innerchr2:232448595..232533884hg19UCSC Ensembl
Outerchr2:232441175..232537927hg19UCSC Ensembl
Innerchr2:232156839..232242128hg18UCSC Ensembl
Outerchr2:232149419..232246171hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3896753
hg1996753
hg1896753
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14244113, nssv14241506, nssv14241173, nssv14252293
SamplesSNI_11, SNI_7, NGO_25, SNI_14
Known GenesC2orf57
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170317
Frequency
Sample Size93
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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