A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005218



Internal ID18747749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16583102..16756084hg38UCSC Ensembl
Innerchr1:16909597..17082579hg19UCSC Ensembl
Innerchr1:16782184..16955166hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38172983
hg19172983
hg18172983
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv62n100
Supporting Variantsnssv3698876, nssv3698875, nssv3478615
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)nsv1005218
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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