A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013996



Internal ID19103215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16864355hg38UCSC Ensembl
Innerchr1:16871266..17190850hg19UCSC Ensembl
Innerchr1:16743853..17063437hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38319585
hg19319585
hg18319585
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv55n100
Supporting Variantsnssv3467454, nssv3466995, nssv3476903, nssv3480382, nssv3475626, nssv3698843, nssv3470390
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013996
Frequency
Sample Size11257
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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