A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2995976



Internal ID15234836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10001..2368561hg38UCSC Ensembl
Outerchr1:1..2300000hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg382358561
hg192300000
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv482937
Supporting Variants
Samples
Known GenesACAP3, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1orf159, C1orf170, C1orf233, C1orf86, CALML6, CCNL2, CDK11A, CDK11B, CPSF3L, DDX11L1, DVL1, FAM132A, FAM138A, FAM138F, FAM41C, FAM87B, GABRD, GLTPD1, GNB1, HES4, ISG15, KIAA1751, KLHL17, LINC00115, LINC01128, LOC100129534, LOC100130417, LOC100132062, LOC100132287, LOC100133331, LOC100288069, LOC148413, LOC254099, LOC729737, MIB2, MIR200A, MIR200B, MIR429, MIR6723, MIR6726, MIR6727, MIR6808, MIR6859-1, MIR6859-2, MMP23A, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, OR4F16, OR4F29, OR4F3, OR4F5, PLEKHN1, PRKCZ, PUSL1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF18, TNFRSF4, TTLL10, UBE2J2, VWA1, WASH7P
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nssv2995976
Frequency
Sample Size39
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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