A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999702



Internal ID19159238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16583102..16949734hg38UCSC Ensembl
Innerchr1:16909597..17276229hg19UCSC Ensembl
Innerchr1:16782184..17148816hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38366633
hg19366633
hg18366633
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv55n100
Supporting Variantsnssv3464324, nssv3477229, nssv3698880, nssv3698881
Samples
Known GenesCROCC, CROCCP2, 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)nsv999702
Frequency
Sample Size11257
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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